{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T23:26:44Z","timestamp":1779924404406,"version":"3.53.1"},"reference-count":15,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,11,4]]},"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:p>We present a case of a male neonate with refractory and persistent neonatal hypoglycaemia not responding to octreotide. On evaluation for hypoglycaemia, his cortisol was within the reference range while the serum insulin concentrations were high. Gallium-68 dotatate scan (GA-68 DOTA) showed diffuse pancreatic involvement. Genetic diagnosis of congenital hyperinsulinaemic hypoglycaemia due to <jats:italic>KCNJ11<\/jats:italic> mutation was made. He was started on tablet sirolimus, after which the child was off all other medication and was euglycaemic. However, he developed bilateral pneumonia leading to acute respiratory distress syndrome with refractory shock. Our case highlights the response to sirolimus in a case of congenital hyperinsulinaemia (CHI) due to <jats:italic>KCNJ11<\/jats:italic> mutation and severe adverse event thereafter.<\/jats:p>","DOI":"10.1136\/bcr-2022-252708","type":"journal-article","created":{"date-parts":[[2022,11,21]],"date-time":"2022-11-21T11:10:18Z","timestamp":1669029018000},"page":"e252708","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Response to sirolimus in a case of diffuse congenital hyperinsulinaemic hypoglycaemia due to homozygous <i>KCNJ11<\/i> mutation"],"prefix":"10.1136","volume":"15","author":[{"given":"Chirantap Markand","family":"Oza","sequence":"first","affiliation":[{"name":"Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaman","family":"Khadilkar","sequence":"additional","affiliation":[{"name":"Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India"},{"name":"Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandeep","family":"Kadam","sequence":"additional","affiliation":[{"name":"Department of pediatrics and neonatology, King Edward Memorial Hospital, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9832-7033","authenticated-orcid":false,"given":"Anuradha","family":"Khadilkar","sequence":"additional","affiliation":[{"name":"Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India"},{"name":"Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,11,21]]},"reference":[{"key":"2025082711161241000_15.11.e252708.1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3651"},{"key":"2025082711161241000_15.11.e252708.2","doi-asserted-by":"publisher","DOI":"10.1038\/ncpendmet0368"},{"key":"2025082711161241000_15.11.e252708.3","doi-asserted-by":"crossref","unstructured":"De Leon DD , Stanley CA . Pathophysiology of diffuse ATPsensitive potassium channel hyperinsulinism. In: De Leon DD , Stanley CA , eds. Monogenic hyperinsulinemic hypoglycemia disorders. Basel: Karger, 2012: 18\u201329.","DOI":"10.1159\/000334476"},{"key":"2025082711161241000_15.11.e252708.4","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1053\/j.sempedsurg.2010.10.004","article-title":"Genetics of congenital hyperinsulinemic hypoglycemia","volume":"20","author":"Flanagan","year":"2011","journal-title":"Semin Pediatr Surg"},{"key":"2025082711161241000_15.11.e252708.5","first-page":"424","article-title":"Surgical versus non-surgical treatment of congenital hyperinsulinism","volume":"6","author":"Mazor-Aronovitch","year":"2009","journal-title":"Pediatr Endocrinol Rev"},{"key":"2025082711161241000_15.11.e252708.6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1310967"},{"key":"2025082711161241000_15.11.e252708.7","doi-asserted-by":"publisher","DOI":"10.1007\/s11523-009-0107-z"},{"key":"2025082711161241000_15.11.e252708.8","doi-asserted-by":"crossref","unstructured":"Kochar I , Ramachandran S , Sethi A . Congenital hyperinsulinemic hypoglycemia: review of the Indian scenario. Nucl Med Mol Imaging 2018.doi:10.15761\/NMBI.1000144","DOI":"10.15761\/NMBI.1000144"},{"key":"2025082711161241000_15.11.e252708.9","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s00431-021-04209-6","article-title":"Sirolimus in infants with congenital hyperinsulinism (CHI) - a single-centre experience","volume":"181","author":"Panigrahy","year":"2022","journal-title":"Eur J Pediatr"},{"key":"2025082711161241000_15.11.e252708.10","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1515\/jpem-2017-0238","article-title":"Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation","volume":"31","author":"Korula","year":"2018","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2025082711161241000_15.11.e252708.11","doi-asserted-by":"crossref","first-page":"4719","DOI":"10.1210\/jc.2016-2711","article-title":"mTOR inhibitors for the treatment of severe congenital hyperinsulinism: perspectives on limited therapeutic success","volume":"101","author":"Szymanowski","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"2025082711161241000_15.11.e252708.12","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1210\/js.2018-00417","article-title":"Sirolimus: efficacy and complications in children with hyperinsulinemic hypoglycemia: a 5-year follow-up study","volume":"3","author":"Maria","year":"2019","journal-title":"J Endocr Soc"},{"key":"2025082711161241000_15.11.e252708.13","article-title":"Efficacy and safety of sirolimus (mTOR inhibitor) in two patients with diazoxide-unresponsive hyperinsulinemic hypoglycemia","volume":"7","author":"Kara","year":"2015","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2025082711161241000_15.11.e252708.14","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1515\/jpem-2016-0229","article-title":"Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism","volume":"30","author":"Al-Balwi","year":"2017","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2025082711161241000_15.11.e252708.15","doi-asserted-by":"crossref","first-page":"478","DOI":"10.4274\/jcrpe.2773","article-title":"A novel homozygous mutation in the KCNJ11 gene of a neonate with congenital hyperinsulinism and successful management with sirolimus","volume":"8","author":"\u00dcnal","year":"2016","journal-title":"J Clin Res Pediatr Endocrinol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-252708","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:16:21Z","timestamp":1756318581000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-252708"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":15,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,11,21]]},"published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1136\/bcr-2022-252708"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-252708","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11]]}}}